SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS370184182 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS370184725 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS370185461 PTPRQ Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive
RS370186772 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS370187673 EDNRB Health Risk Pathogenic —
RS370189384 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS370189682 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS370189963 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS370191484 SCP2 Health Risk Likely pathogenic —
RS370191618 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370192027 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS370193367 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS370193515 AKT3 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS370196139 IFNA6 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS370196264 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS370196358 GRIK2 Health Risk Conflicting classifications of pathogenicity —
RS370196445 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS370196495 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS370196519 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS370196722 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS370197479 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS370198465 NALCN Health Risk Conflicting classifications of pathogenicity —
RS370198555 KMT2E Health Risk Conflicting classifications of pathogenicity KMT2E-related disorder, KMT2E-related disorder
RS370198850 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS370199412 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS370200334 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS370200820 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS370202395 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Oto-palato-digital syndrome
RS370202718 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS370202769 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370203821 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS370204704 ZNF292 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370205671 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS370206339 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS370206645 MYO7A Health Risk Conflicting classifications of pathogenicity MYO7A-related disorder, MYO7A-related disorder
RS370207155 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS370208081 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370208223 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS370208651 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS370209377 OPHN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370209627 MYO1E Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 6, Inborn genetic diseases
RS370209795 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS370209920 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS370209978 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS370210428 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Senior-Loken syndrome 4
RS370212314 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS370213701 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS370215797 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS370215891 NR2E3 Health Risk Pathogenic —
RS370216450 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370217639 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS370217718 SKI Health Risk Conflicting classifications of pathogenicity Isolated thoracic aortic aneurysm, Shprintzen-Goldberg syndrome
RS370217726 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS370218357 ITGA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epidermolysis bullosa
RS370218399 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370219248 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS370219399 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS370219417 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS370219646 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS370219874 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS370220844 KIR3DL1 Health Risk Conflicting classifications of pathogenicity —
RS370221310 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 4B
RS370222210 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS370223247 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Left ventricular noncompaction 10
RS370227049 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370227350 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS370227491 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS370228071 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS370228676 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS370229163 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS370229813 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS370229918 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS370230435 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SZT2-related disorder
RS370230541 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS370231267 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Inborn genetic diseases
RS370231427 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS370231679 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS370231890 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS370232376 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS370232864 AQP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370233852 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS370234887 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS370236216 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS370236540 KLF11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
RS370236552 TOGARAM1 Health Risk Pathogenic Joubert syndrome 37, Joubert syndrome 37
RS370237172 CACNA1B Health Risk Likely pathogenic —
RS370237509 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS370238006 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370238286 IFT74 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, IFT74-related disorder
RS370239008 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS370239205 HNF4A Health Risk Pathogenic Monogenic diabetes, HNF4A-related disorder
RS370239228 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I
RS370239493 PYROXD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370239668 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS370239685 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370240337 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2
RS370241999 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 3
RS370242565 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 5, LEOPARD syndrome 2
RS370242930 RNF125 Health Risk Conflicting classifications of pathogenicity Tenorio syndrome, RNF125-related disorder
RS370243092 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
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